UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843648_102846953del | CA251545 | PAH | c.914_1199+1del c.899_1184+1del n.673_958+1del n.576_861+1del c.74-2519_303+1del n.429_714+1del c.913-2519_1142+1del | ClinVar |
| 12 | g.102844347_102844358delinsCAAAGGATGACA | CA2059448048 | PAH | c.1043_1054delinsTGTCATCCTTTG (p.Leu348=) c.1028_1039delinsTGTCATCCTTTG (p.Leu343=) n.802_813delinsTGTCATCCTTTG n.705_716delinsTGTCATCCTTTG c.147_158delinsTGTCATCCTTTG n.558_569delinsTGTCATCCTTTG c.986_997delinsTGTCATCCTTTG (p.Leu329=) | |
| 12 | g.102844348_102844358del | CA229297 | PAH | c.1043_1053del (p.Leu348ArgfsTer2) c.1028_1038del (p.Leu343ArgfsTer2) n.802_812del n.705_715del c.147_157del n.558_568del c.986_996del (p.Leu329ArgfsTer2) | ClinVar dbSNP |
| 12 | g.102844353A= | CA2059448066 | PAH | c.1048T= (p.Ser350=) c.1033T= (p.Ser345=) n.807T= n.710T= c.152T= n.563T= c.991T= (p.Ser331=) | |
| 12 | g.102844353A>C | CA386493410 | PAH | c.1048T>G (p.Ser350Ala) c.1033T>G (p.Ser345Ala) n.807T>G n.710T>G c.152T>G n.563T>G c.991T>G (p.Ser331Ala) | |
| 12 | g.102844353A>G | CA386493409 | PAH | c.1048T>C (p.Ser350Pro) c.1033T>C (p.Ser345Pro) n.807T>C n.710T>C c.152T>C n.563T>C c.991T>C (p.Ser331Pro) | |
| 12 | g.102844353A>T | CA229304 | PAH | c.1048T>A (p.Ser350Thr) c.1033T>A (p.Ser345Thr) n.807T>A n.710T>A c.152T>A n.563T>A c.991T>A (p.Ser331Thr) | ClinVar dbSNP |
| 12 | g.102844354T>A | CA6748763 | PAH | c.1047A>T (p.Ser349=) c.1032A>T (p.Ser344=) n.806A>T n.709A>T c.151A>T n.562A>T c.990A>T (p.Ser330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844354T>C | CA481375745 | PAH | c.1047A>G (p.Ser349=) c.1032A>G (p.Ser344=) n.806A>G n.709A>G c.151A>G n.562A>G c.990A>G (p.Ser330=) | |
| 12 | g.102844354T>G | CA481375746 | PAH | c.1047A>C (p.Ser349=) c.1032A>C (p.Ser344=) n.806A>C n.709A>C c.151A>C n.562A>C c.990A>C (p.Ser330=) | |
| 12 | g.102844354T= | CA2059448077 | PAH | c.1047A= (p.Ser349=) c.1032A= (p.Ser344=) n.806A= n.709A= c.151A= n.562A= c.990A= (p.Ser330=) | |
| 12 | g.102844354_102844357dup | CA229303 | PAH | c.1044_1047dup (p.Ser350ValfsTer5) c.1029_1032dup (p.Ser345ValfsTer5) n.803_806dup n.706_709dup c.148_151dup n.559_562dup c.987_990dup (p.Ser331ValfsTer5) | ClinVar dbSNP |
| 12 | g.102844355G>A | CA229302 | PAH | c.1046C>T (p.Ser349Leu) c.1031C>T (p.Ser344Leu) n.805C>T n.708C>T c.150C>T n.561C>T c.989C>T (p.Ser330Leu) | ClinVar dbSNP |
| 12 | g.102844355G>C | CA386493411 | PAH | c.1046C>G (p.Ser349Ter) c.1031C>G (p.Ser344Ter) n.805C>G n.708C>G c.150C>G n.561C>G c.989C>G (p.Ser330Ter) | |
| 12 | g.102844355G= | CA2059448088 | PAH | c.1046C= (p.Ser349=) c.1031C= (p.Ser344=) n.805C= n.708C= c.150C= n.561C= c.989C= (p.Ser330=) | |
| 12 | g.102844355G>T | CA229300 | PAH | c.1046C>A (p.Ser349Ter) c.1031C>A (p.Ser344Ter) n.805C>A n.708C>A c.150C>A n.561C>A c.989C>A (p.Ser330Ter) | ClinVar dbSNP |
| 12 | g.102844355_102844356delinsCG | CA913187351 | PAH | c.1045_1046delinsCG (p.Ser349Arg) c.1030_1031delinsCG (p.Ser344Arg) n.804_805delinsCG n.707_708delinsCG c.149_150delinsCG n.560_561delinsCG c.988_989delinsCG (p.Ser330Arg) | |
| 12 | g.102844356A= | CA2059448099 | PAH | c.1045T= (p.Ser349=) c.1030T= (p.Ser344=) n.804T= n.707T= c.149T= n.560T= c.988T= (p.Ser330=) | |
| 12 | g.102844356A>C | CA229298 | PAH | c.1045T>G (p.Ser349Ala) c.1030T>G (p.Ser344Ala) n.804T>G n.707T>G c.149T>G n.560T>G c.988T>G (p.Ser330Ala) | ClinVar dbSNP |
| 12 | g.102844356A>G | CA251542 | PAH | c.1045T>C (p.Ser349Pro) c.1030T>C (p.Ser344Pro) n.804T>C n.707T>C c.149T>C n.560T>C c.988T>C (p.Ser330Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844356A>T | CA386493412 | PAH | c.1045T>A (p.Ser349Thr) c.1030T>A (p.Ser344Thr) n.804T>A n.707T>A c.149T>A n.560T>A c.988T>A (p.Ser330Thr) | |
| 12 | g.102844357C>A | CA481375749 | PAH | c.1044G>T (p.Leu348=) c.1029G>T (p.Leu343=) n.803G>T n.706G>T c.148G>T n.559G>T c.987G>T (p.Leu329=) | |
| 12 | g.102844357C>G | CA481375750 | PAH | c.1044G>C (p.Leu348=) c.1029G>C (p.Leu343=) n.803G>C n.706G>C c.148G>C n.559G>C c.987G>C (p.Leu329=) | |
| 12 | g.102844357C>T | CA481375751 | PAH | c.1044G>A (p.Leu348=) c.1029G>A (p.Leu343=) n.803G>A n.706G>A c.148G>A n.559G>A c.987G>A (p.Leu329=) | gnomAD v4 |
| 12 | g.102844360_102844367del | CA2695217228 | PAH | c.1037_1044del (p.Gly346ValfsTer5) c.1022_1029del (p.Gly341ValfsTer5) n.796_803del n.699_706del c.141_148del n.552_559del c.980_987del (p.Gly327ValfsTer5) | |
| 12 | g.102844358A= | CA2059448111 | PAH | c.1043T= (p.Leu348=) c.1028T= (p.Leu343=) n.802T= n.705T= c.147T= n.558T= c.986T= (p.Leu329=) | |
| 12 | g.102844358A>C | CA386493413 | PAH | c.1043T>G (p.Leu348Arg) c.1028T>G (p.Leu343Arg) n.802T>G n.705T>G c.147T>G n.558T>G c.986T>G (p.Leu329Arg) | |
| 12 | g.102844358A>G | CA16020922 | PAH | c.1043T>C (p.Leu348Pro) c.1028T>C (p.Leu343Pro) n.802T>C n.705T>C c.147T>C n.558T>C c.986T>C (p.Leu329Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844358A>T | CA386493414 | PAH | c.1043T>A (p.Leu348Gln) c.1028T>A (p.Leu343Gln) n.802T>A n.705T>A c.147T>A n.558T>A c.986T>A (p.Leu329Gln) | gnomAD v4 |
| 12 | g.102844359G>A | CA481375752 | PAH | c.1042C>T (p.Leu348=) c.1027C>T (p.Leu343=) n.801C>T n.704C>T c.146C>T n.557C>T c.985C>T (p.Leu329=) | |
| 12 | g.102844359G>C | CA220576 | PAH | c.1042C>G (p.Leu348Val) c.1027C>G (p.Leu343Val) n.801C>G n.704C>G c.146C>G n.557C>G c.985C>G (p.Leu329Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844359G= | CA2059448115 | PAH | c.1042C= (p.Leu348=) c.1027C= (p.Leu343=) n.801C= n.704C= c.146C= n.557C= c.985C= (p.Leu329=) | |
| 12 | g.102844359G>T | CA386493415 | PAH | c.1042C>A (p.Leu348Met) c.1027C>A (p.Leu343Met) n.801C>A n.704C>A c.146C>A n.557C>A c.985C>A (p.Leu329Met) | |
| 12 | g.102844360G>A | CA481375753 | PAH | c.1041C>T (p.Leu347=) c.1026C>T (p.Leu342=) n.800C>T n.703C>T c.145C>T n.556C>T c.984C>T (p.Leu328=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102844360G>C | CA481375754 | PAH | c.1041C>G (p.Leu347=) c.1026C>G (p.Leu342=) n.800C>G n.703C>G c.145C>G n.556C>G c.984C>G (p.Leu328=) | |
| 12 | g.102844360G= | CA2059448126 | PAH | c.1041C= (p.Leu347=) c.1026C= (p.Leu342=) n.800C= n.703C= c.145C= n.556C= c.984C= (p.Leu328=) | |
| 12 | g.102844360G>T | CA481375755 | PAH | c.1041C>A (p.Leu347=) c.1026C>A (p.Leu342=) n.800C>A n.703C>A c.145C>A n.556C>A c.984C>A (p.Leu328=) | |
| 12 | g.102844361A= | CA2059448130 | PAH | c.1040T= (p.Leu347=) c.1025T= (p.Leu342=) n.799T= n.702T= c.144T= n.555T= c.983T= (p.Leu328=) | |
| 12 | g.102844361A>C | CA242744442 | PAH | c.1040T>G (p.Leu347Arg) c.1025T>G (p.Leu342Arg) n.799T>G n.702T>G c.144T>G n.555T>G c.983T>G (p.Leu328Arg) | dbSNP |
| 12 | g.102844361A>G | CA386493416 | PAH | c.1040T>C (p.Leu347Pro) c.1025T>C (p.Leu342Pro) n.799T>C n.702T>C c.144T>C n.555T>C c.983T>C (p.Leu328Pro) | |
| 12 | g.102844361A>T | CA386493417 | PAH | c.1040T>A (p.Leu347His) c.1025T>A (p.Leu342His) n.799T>A n.702T>A c.144T>A n.555T>A c.983T>A (p.Leu328His) | |
| 12 | g.102844362G>A | CA229296 | PAH | c.1039C>T (p.Leu347Phe) c.1024C>T (p.Leu342Phe) n.798C>T n.701C>T c.143C>T n.554C>T c.982C>T (p.Leu328Phe) | ClinVar dbSNP |
| 12 | g.102844362G>C | CA386493418 | PAH | c.1039C>G (p.Leu347Val) c.1024C>G (p.Leu342Val) n.798C>G n.701C>G c.143C>G n.554C>G c.982C>G (p.Leu328Val) | |
| 12 | g.102844362G= | CA2059448140 | PAH | c.1039C= (p.Leu347=) c.1024C= (p.Leu342=) n.798C= n.701C= c.143C= n.554C= c.982C= (p.Leu328=) | |
| 12 | g.102844362G>T | CA386493419 | PAH | c.1039C>A (p.Leu347Ile) c.1024C>A (p.Leu342Ile) n.798C>A n.701C>A c.143C>A n.554C>A c.982C>A (p.Leu328Ile) | |
| 12 | g.102844362_102844363delinsGC | CA2059448138 | PAH | c.1038_1039delinsGC (p.Gly346=) c.1023_1024delinsGC (p.Gly341=) n.797_798delinsGC n.700_701delinsGC c.142_143delinsGC n.553_554delinsGC c.981_982delinsGC (p.Gly327=) | |
| 12 | g.102844363C>A | CA481375756 | PAH | c.1038G>T (p.Gly346=) c.1023G>T (p.Gly341=) n.797G>T n.700G>T c.142G>T n.553G>T c.981G>T (p.Gly327=) | |
| 12 | g.102844363C>G | CA481375757 | PAH | c.1038G>C (p.Gly346=) c.1023G>C (p.Gly341=) n.797G>C n.700G>C c.142G>C n.553G>C c.981G>C (p.Gly327=) | |
| 12 | g.102844363C>T | CA481375758 | PAH | c.1038G>A (p.Gly346=) c.1023G>A (p.Gly341=) n.797G>A n.700G>A c.142G>A n.553G>A c.981G>A (p.Gly327=) | |
| 12 | g.102844365del | CA229295 | PAH | c.1038del (p.Leu347SerfsTer?) c.1023del (p.Leu342SerfsTer?) n.797del n.700del c.142del n.553del c.981del (p.Leu328SerfsTer?) | ClinVar dbSNP gnomAD v4 |